GM23675
LCL from B-Lymphocyte
Description:
LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
METHYL-CPG-BINDING PROTEIN 2; MECP2
DUPLICATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
GeT-RM Samples |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Family Member
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2
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Family History
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N
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Relation to Proband
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son
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY.arr Xq28(152771567-153227663)x2
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0030; LUBS X-LINKED MENTAL RETARDATION SYNDROME |
| Identified Mutation |
MECP2 DUP |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0030; LUBS X-LINKED MENTAL RETARDATION SYNDROME |
| Identified Mutation |
MECP2 DUP |
| Remarks |
Clinically affected; donor subject is hemizygous for a 490 kb Xq28 duplication which includes the MECP2 gene. |
| Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J Mol Diagn.16 (2):273-9 2014 |
| PubMed ID: 24508304 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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